Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ABHD16B_chr20_63856498_63867988	63862607	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show HG00597.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp2 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG03453.hp1 NA18950.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA19002.hp1 NA19011.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19090.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0016 a0006c0007 a0003c0003 a0003c0016 a0006c0007	a0003c0003t0001 a0003c0016t0001 a0006c0007t0001 a0003c0003t0001 a0003c0016t0001 a0006c0007t0001	a0003c0003t0001g0000 a0003c0016t0001g0000 a0006c0007t0001g0000 a0003c0003t0001g0000 a0003c0016t0001g0000 a0006c0007t0001g0000	18	398	0.0452	1	c.107 others(5): Show c.1071dupC	p.Val others(5): Show p.Val358fs	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1115/1491	1072/1410	358/469		INFO_REALIGN_3_PRIME	chr20	TogoVar
AKR1B10_chr7_134522567_134546412	134537643	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG01261.hp2 HG01978.hp1 HG02055.hp2 others(14): Show HG01261.hp2 HG01978.hp1 HG02055.hp2 HG03491.hp2 HG03516.hp1 HG03831.hp1 HG04115.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA18972.hp1 NA18977.hp2 NA18985.hp2 NA18994.hp2 NA19010.hp1 NA19067.hp2 NA19089.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0004c0006 a0004c0015 others(1): Show a0004c0005 a0004c0006 a0004c0015 a0006c0009	a0004c0005t0001 a0004c0006t0001 a0004c0006t0002 others(4): Show a0004c0005t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0006t0009 a0004c0015t0001 a0006c0009t0001	a0004c0005t0001g0004 a0004c0005t0001g0020 a0004c0005t0001g0047 others(12): Show a0004c0005t0001g0004 a0004c0005t0001g0020 a0004c0005t0001g0047 a0004c0005t0001g0054 a0004c0005t0001g0098 a0004c0005t0001g0117 a0004c0006t0001g0017 a0004c0006t0002g0002 a0004c0006t0002g0150 a0004c0006t0003g0056 a0004c0006t0009g0162 a0004c0015t0001g0009 a0006c0009t0001g0006 a0006c0009t0001g0011 a0006c0009t0001g0086	17	448	0.0380	1	c.730 others(4): Show c.730dupA	p.Thr others(5): Show p.Thr244fs	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	7/10	1076/1619	731/951	244/316		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD35_chr1_145861564_145890866	145872539	G G	A A	stop_gained stop_gained	HIGH	NA18972.hp1 NA18972.hp1	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0001 a0020c0025t0001	a0020c0025t0001g0207 a0020c0025t0001g0207	1	400	0.0025	0	c.223 others(4): Show c.2230C>T	p.Gln others(4): Show p.Gln744*	ANKRD35	ENSG00000198483.13	transcript	ENST00000355594.9	protein_coding	10/14	2338/3359	2230/3006	744/1001			chr1	TogoVar
ANKRD36C_chr2_95844548_95996824	95918788	GTTAGATA others(1872): Show GTTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGA AAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTA AAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCAT GAAATAGCTATTTCACCCAAGAGGTAGCTCCTGGAACAAGGAAGCCAATG TATTCATATTCAAGTTTATCTCATTTTTATAAGTAAAGTCAACAAAACAT GTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCT TTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGC CAAAATCAAATATTTTTTAAGCACATATTCCAAATGCAAGTGAAGTGAGT TCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCTT TTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGAAAATAATTGCTA CATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTATAGGTTATTAAT ATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACGTCTGTAAAATCT GTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACCATGCTGTAGAAT TAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGTCTTGAACTGCTC TCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACT GCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTA TTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGC GACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTT TTTTATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTC TCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATC TTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAA ATAAATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAA TTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TACATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACAC AGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGA TGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGT AAGAGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGG TATGATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAAC GTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAA CTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACAT GTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCA TGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCC TAAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATT CATTATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTA TCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAA GGATAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACA TACTTCTACAAAGTAAAACTGCTACAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0004 a0008 others(9): Show a0002 a0004 a0008 a0013 a0021 a0022 a0023 a0025 a0036 a0037 a0039 a0040	a0002c0004 a0002c0007 a0002c0013 others(14): Show a0002c0004 a0002c0007 a0002c0013 a0004c0003 a0004c0021 a0004c0029 a0008c0012 a0008c0020 a0013c0014 a0021c0041 a0022c0023 a0023c0019 a0025c0034 a0036c0040 a0037c0039 a0039c0043 a0040c0044	a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 others(14): Show a0002c0004t0001 a0002c0007t0001 a0002c0013t0001 a0004c0003t0001 a0004c0021t0001 a0004c0029t0001 a0008c0012t0001 a0008c0020t0001 a0013c0014t0001 a0021c0041t0001 a0022c0023t0001 a0023c0019t0002 a0025c0034t0001 a0036c0040t0001 a0037c0039t0001 a0039c0043t0001 a0040c0044t0001	a0002c0004t0001g0003 a0002c0004t0001g0019 a0002c0004t0001g0021 others(96): Show a0002c0004t0001g0003 a0002c0004t0001g0019 a0002c0004t0001g0021 a0002c0004t0001g0022 a0002c0004t0001g0181 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0190 a0002c0004t0001g0191 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0004t0001g0203 a0002c0004t0001g0215 a0002c0004t0001g0217 a0002c0004t0001g0222 a0002c0004t0001g0228 a0002c0004t0001g0238 a0002c0004t0001g0240 a0002c0004t0001g0249 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0265 a0002c0004t0001g0268 a0002c0004t0001g0271 a0002c0007t0001g0002 a0002c0007t0001g0205 a0002c0007t0001g0206 a0002c0007t0001g0207 a0002c0007t0001g0210 a0002c0007t0001g0211 a0002c0007t0001g0212 a0002c0007t0001g0213 a0002c0007t0001g0214 a0002c0007t0001g0239 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0261 a0002c0007t0001g0262 a0002c0013t0001g0182 a0002c0013t0001g0196 a0002c0013t0001g0197 a0002c0013t0001g0241 a0004c0003t0001g0183 a0004c0003t0001g0189 a0004c0003t0001g0192 a0004c0003t0001g0194 a0004c0003t0001g0204 a0004c0003t0001g0216 a0004c0003t0001g0219 a0004c0003t0001g0223 a0004c0003t0001g0224 a0004c0003t0001g0227 a0004c0003t0001g0229 a0004c0003t0001g0230 a0004c0003t0001g0231 a0004c0003t0001g0233 a0004c0003t0001g0235 a0004c0003t0001g0236 a0004c0003t0001g0237 a0004c0003t0001g0243 a0004c0003t0001g0244 a0004c0003t0001g0245 a0004c0003t0001g0246 a0004c0003t0001g0247 a0004c0003t0001g0248 a0004c0003t0001g0250 a0004c0003t0001g0251 a0004c0003t0001g0252 a0004c0003t0001g0256 a0004c0003t0001g0257 a0004c0003t0001g0258 a0004c0003t0001g0269 a0004c0003t0001g0272 a0004c0021t0001g0234 a0004c0021t0001g0242 a0004c0029t0001g0005 a0008c0012t0001g0187 a0008c0012t0001g0188 a0008c0012t0001g0208 a0008c0012t0001g0209 a0008c0020t0001g0193 a0008c0020t0001g0253 a0013c0014t0001g0195 a0013c0014t0001g0198 a0013c0014t0001g0266 a0021c0041t0001g0173 a0022c0023t0001g0225 a0022c0023t0001g0226 a0023c0019t0002g0218 a0023c0019t0002g0267 a0025c0034t0001g0232 a0036c0040t0001g0220 a0037c0039t0001g0221 a0039c0043t0001g0270 a0040c0044t0001g0199	101	298	0.3389	-1879	c.224 others(17): Show c.2246-747_2348-747del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97188507	GGTGAGAG others(1883): Show GGTGAGAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCA AGGTGATCAATTTAGGACACTTCCACTGAAGAGATGTGAAGTATACGTTC AACTGAATTGTCGTGGTAACTGTGTGCCTTCTCAGTTATTGGGCAAGTTA AAGAGCATGATGAATGTTTGTAGTACAATGGTGTAAATCCTTTTGATTTC CTGCATGAAAGACATGTGGGATCATGTAGCACCTGCTTTGACATTGATTC TCACATGTATGAGTTGCTCCTCTGATTTTAGATCACTTTGTCCTCATCAC TCGGCATATCCACATTGATATTGACACGGTTTTATTTTAGTTTTCGACAT ATGACGAATCATACCATGTTTGAAATTGTAAGGATATATTTCATGGAGCC TGTATTCCCTTTTACCAGTGTATTTCTGTCATGTTCCAGTCCCAAGAGAC AAAGTAGAAGACATCAGAGCCTACACTAGTACAGGCAGAAGGATACAGCT GGATGCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATAT GAGTGATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAGCAACCA GCCTTGAAGGTAATTAAACTCTCGTTTACATTGTGAACTAGTAATTCTAT AGTCTATGAAACATACTTCATTGATTTATTTATTTATTATTTTCTTTCAA ATTCCATTAAGGCTACAACTGACGAGGAAGATTCTGTTTCGAATATAGCC ACAGAAATAAAGGATGGAGAAAAATCTGGGACAGGTAATTTTGCAAAACA CATTCAATGTCATGTTCAATCCAGATAGAAAAGAACTTCTCTACCCCGAA TAAATCAGCGGAGGGTGGGTGGGGGGCTCGCCTAATCTGCACATTCTGAT TCAGCAGGCCTGAGAGTCTTCATTTGTAATAAATTCCTGGGTGACGCTAA TGCTGCTGGCTTGGAACGTGATCTTCGCAGTAAGATTATACACTTCCCCA CATTGAAATTGGGAAGAAGATACATGGAGAGAGGTTCAAGACATAAGGGG CTCTGGGGAACAGCATAGTTTTGCTTTAATTCTACAGCATGGTTTCACTA AGGGTGGAAGAAGAAAGAGAGGAAGTATAGATTCTACAGACGTCACATAG TACTGCTAAGAAAAGACAGAGAACTGATAGTAATAACCCATAGACACTGT AGAACGAGAACTAAGGAGACCCCTGATGTAGCAATTATTTTCCCAAGGAA GATGGATTGTCAGACAGGAAGGAGGGAAAAGAAGTTATTTATATAATTTA GGGGTTTCTGCTGAGGAAATCTGAGTGAACTCACTTCACATGCATTTGGA ATATGTGCCTAAAAAATATTTGATTTTGGCAGCTCCAGGAATTACTGGAA GCAGGAAACAATGCTAGAATTGGGATAAAGCACACTGACTCATTACTCCT TTTTGTTACTATTAGGCATCAGAGATACATGTTTTGTTGACTTTACTTAT AAAAATGAGATAAAGTTGAATATGAATACATTGGCTTCCTTGTTCAAGGA GCTACCTCTTGGATAAAATAGCTATTTCATGAAACTTCTATAGAGAACAA CATGATACTCCCAAGAAGGCTATTTTAGAAACAAAAATTATGTTGAATTC TAATTAACTCCTAAAATGGTAATTTTCAATGAATATTGCAGTGATTTCTG AATGAAAAACTGATTAATATCTAATGCTTGTAGCAGTTTTACTTTGTAGA AGTATGTCAAAATTGATAATTGATGATATTTTTATTGAGGCTGATATATT ATCCTTTGGTGCCACGACTGGATGAAGAAACTTTCGGAGGGATAAACTAG TGGATACAAGAAACTTAGGCAAATTATTACAACACATGGGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp1 HG03225.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18972.hp1 NA18973.hp1 NA18991.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19074.hp1 NA20905.hp1	a0003 a0006 a0007 others(6): Show a0003 a0006 a0007 a0014 a0017 a0025 a0027 a0028 a0032	a0003c0003 a0006c0008 a0006c0034 others(7): Show a0003c0003 a0006c0008 a0006c0034 a0007c0007 a0014c0014 a0017c0017 a0025c0057 a0027c0028 a0028c0056 a0032c0054	a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 others(8): Show a0003c0003t0001 a0006c0008t0001 a0006c0008t0009 a0006c0034t0001 a0007c0007t0001 a0014c0014t0001 a0017c0017t0001 a0025c0057t0001 a0027c0028t0001 a0028c0056t0001 a0032c0054t0001	a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 others(44): Show a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0172 a0003c0003t0001g0181 a0006c0008t0001g0004 a0006c0008t0001g0005 a0006c0008t0001g0006 a0006c0008t0001g0007 a0006c0008t0001g0147 a0006c0008t0001g0148 a0006c0008t0009g0146 a0006c0034t0001g0173 a0007c0007t0001g0137 a0007c0007t0001g0138 a0007c0007t0001g0139 a0007c0007t0001g0140 a0007c0007t0001g0141 a0007c0007t0001g0164 a0007c0007t0001g0180 a0007c0007t0001g0207 a0014c0014t0001g0150 a0014c0014t0001g0154 a0014c0014t0001g0155 a0014c0014t0001g0156 a0017c0017t0001g0145 a0017c0017t0001g0169 a0017c0017t0001g0170 a0025c0057t0001g0134 a0027c0028t0001g0161 a0028c0056t0001g0171 a0032c0054t0001g0165	47	212	0.2217	-1890	c.214 others(17): Show c.2144-494_2246-496del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	33/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(32): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0035 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0051 a0052	a0000c0016 a0001c0001 a0001c0036 others(40): Show a0000c0016 a0001c0001 a0001c0036 a0001c0044 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0010c0012 a0010c0059 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0016c0023 a0016c0053 a0018c0018 a0019c0031 a0019c0032 a0020c0022 a0021c0021 a0022c0020 a0023c0019 a0024c0060 a0026c0058 a0029c0055 a0030c0052 a0035c0062 a0036c0041 a0037c0040 a0040c0047 a0041c0045 a0042c0043 a0043c0039 a0044c0038 a0045c0049 a0047c0033 a0048c0030 a0049c0029 a0051c0027 a0052c0026	a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 others(46): Show a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0036t0001 a0001c0044t0001 a0001c0046t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0010c0012t0001 a0010c0059t0001 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0016c0023t0001 a0016c0053t0001 a0018c0018t0002 a0019c0031t0007 a0019c0032t0007 a0020c0022t0002 a0021c0021t0002 a0022c0020t0001 a0023c0019t0003 a0024c0060t0002 a0026c0058t0001 a0029c0055t0002 a0030c0052t0002 a0035c0062t0004 a0036c0041t0001 a0037c0040t0002 a0040c0047t0001 a0041c0045t0001 a0042c0043t0002 a0043c0039t0001 a0044c0038t0001 a0045c0049t0001 a0047c0033t0002 a0048c0030t0002 a0049c0029t0001 a0051c0027t0001 a0052c0026t0003	a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 others(144): Show a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 a0000c0016t0006g0119 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0007g0100 a0001c0036t0001g0080 a0001c0044t0001g0001 a0001c0046t0002g0051 a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0010c0012t0001g0072 a0010c0012t0001g0075 a0010c0012t0001g0083 a0010c0012t0001g0092 a0010c0012t0001g0103 a0010c0059t0001g0090 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0016c0023t0001g0091 a0016c0023t0001g0093 a0016c0053t0001g0104 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0019c0031t0007g0126 a0019c0032t0007g0127 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0022c0020t0001g0097 a0022c0020t0001g0098 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0026c0058t0001g0074 a0029c0055t0002g0023 a0030c0052t0002g0128 a0035c0062t0004g0042 a0036c0041t0001g0113 a0037c0040t0002g0211 a0040c0047t0001g0082 a0041c0045t0001g0110 a0042c0043t0002g0210 a0043c0039t0001g0008 a0044c0038t0001g0067 a0045c0049t0001g0120 a0047c0033t0002g0025 a0048c0030t0002g0003 a0049c0029t0001g0122 a0051c0027t0001g0071 a0052c0026t0003g0193	147	212	0.6934	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANLN_chr7_36384862_36458791	36425997	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02717.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0001 a0002c0001t0010 a0004c0007t0001 a0002c0001t0001 a0002c0001t0010 a0004c0007t0001	a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 others(58): Show a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0053 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0096 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0296 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0300 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0320 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0010g0319 a0004c0007t0001g0382	64	408	0.1569	1	c.274 others(7): Show c.2749-3dupT		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	18/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
APOL4_chr22_36184128_36206809	36201698	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01070.hp2 HG01106.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02056.hp2 HG02074.hp1 HG02135.hp2 HG02165.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 NA18943.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18972.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19063.hp2 NA19067.hp2 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0003c0004 a0003c0018 a0004c0006 a0005c0008 a0006c0011	a0001c0001t0001 a0001c0001t0028 a0002c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0028 a0002c0002t0002 a0002c0002t0023 a0002c0003t0019 a0002c0005t0005 a0003c0004t0006 a0003c0004t0010 a0003c0004t0017 a0003c0018t0018 a0004c0006t0008 a0005c0008t0001 a0006c0011t0014	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0028g0063 a0002c0002t0002g0022 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0023g0078 a0002c0003t0019g0067 a0002c0005t0005g0006 a0002c0005t0005g0032 a0002c0005t0005g0065 a0002c0005t0005g0066 a0003c0004t0006g0073 a0003c0004t0010g0074 a0003c0004t0010g0075 a0003c0004t0017g0056 a0003c0018t0018g0062 a0004c0006t0008g0015 a0004c0006t0008g0076 a0004c0006t0008g0077 a0005c0008t0001g0021 a0005c0008t0001g0059 a0006c0011t0014g0029	58	434	0.1336	0	c.35+ others(4): Show c.35+2T>G		APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	1/3						chr22	TogoVar
ARL9_chr4_56500791_56529453	56505976	TAAAC TAAAC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp2 HG02523.hp2 HG02559.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0003t0004 a0003c0007t0001 a0003c0003t0001 a0003c0003t0004 a0003c0007t0001	a0003c0003t0001g0008 a0003c0003t0001g0010 a0003c0003t0001g0015 others(41): Show a0003c0003t0001g0008 a0003c0003t0001g0010 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0004g0257 a0003c0003t0004g0258 a0003c0007t0001g0022 a0003c0007t0001g0160 a0003c0007t0001g0192 a0003c0007t0001g0198 a0003c0007t0001g0225 a0003c0007t0001g0262	61	416	0.1466	-4	c.118 others(11): Show c.118_121delCAAA	p.Gln others(4): Show p.Gln40fs	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	190/1447	118/798	40/265		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARMCX4_chrX_101480456_101500807	101489254	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0001 a0038c0065t0001	a0038c0065t0001g0008 a0038c0065t0001g0008	1	326	0.0031	1	c.670 others(4): Show c.670dupG	p.Ala others(5): Show p.Ala224fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	1182/7729	671/6873	224/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101489609	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0001 a0038c0065t0001	a0038c0065t0001g0008 a0038c0065t0001g0008	1	326	0.0031	1	c.102 others(5): Show c.1025dupG	p.Asn others(5): Show p.Asn343fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	1537/7729	1026/6873	342/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101489792	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0040 a0040	a0040c0043 a0040c0043	a0040c0043t0002 a0040c0043t0002	a0040c0043t0002g0036 a0040c0043t0002g0036	1	326	0.0031	-1	c.120 others(5): Show c.1205delC	p.Pro others(5): Show p.Pro402fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	1716/7729	1205/6873	402/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101491428	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0040 a0040	a0040c0043 a0040c0043	a0040c0043t0002 a0040c0043t0002	a0040c0043t0002g0036 a0040c0043t0002g0036	1	326	0.0031	-1	c.284 others(5): Show c.2840delC	p.Ser others(5): Show p.Ser947fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	3351/7729	2840/6873	947/2290			chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101491643	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0040 a0040	a0040c0043 a0040c0043	a0040c0043t0002 a0040c0043t0002	a0040c0043t0002g0036 a0040c0043t0002g0036	1	326	0.0031	1	c.305 others(5): Show c.3057dupG	p.Thr others(6): Show p.Thr1020fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	3569/7729	3058/6873	1020/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101491846	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0001 a0038c0065t0001	a0038c0065t0001g0008 a0038c0065t0001g0008	1	326	0.0031	1	c.326 others(5): Show c.3260dupA	p.Thr others(6): Show p.Thr1088fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	3772/7729	3261/6873	1087/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493335	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA19083.hp1 NA18972.hp2 NA19083.hp1	a0038 a0042 a0038 a0042	a0038c0065 a0042c0028 a0038c0065 a0042c0028	a0038c0065t0001 a0042c0028t0002 a0038c0065t0001 a0042c0028t0002	a0038c0065t0001g0008 a0042c0028t0002g0007 a0038c0065t0001g0008 a0042c0028t0002g0007	2	326	0.0061	1	c.475 others(5): Show c.4752dupG	p.Phe others(6): Show p.Phe1585fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5264/7729	4753/6873	1585/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493446	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0001 a0038c0065t0001	a0038c0065t0001g0008 a0038c0065t0001g0008	1	326	0.0031	1	c.486 others(5): Show c.4862dupG	p.Ala others(6): Show p.Ala1622fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5374/7729	4863/6873	1621/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0010g0002 a0001c0001t0015g0144 a0001c0001t0017g0133 a0001c0001t0021g0132 a0001c0001t0022g0054 a0001c0001t0027g0031	114	404	0.2822	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5						chr9	TogoVar
ARSL_chrX_2929521_2969341	2934885	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0011 a0011c0017t0011	a0011c0017t0011g0268 a0011c0017t0011g0268	1	328	0.0031	1	c.171 others(5): Show c.1716dupC	p.Cys others(5): Show p.Cys573fs	ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	11/11	1854/2219	1716/1770	572/589			chrX	TogoVar
ATP1B4_chrX_120357089_120388237	120370742	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0164 a0004c0005t0001g0164	1	353	0.0028	1	c.357 others(4): Show c.357dupC	p.Tyr others(5): Show p.Tyr120fs	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	3/8	438/4757	358/1074	120/357		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP6V1G1_chr9_114582769_114603879	114597738	G G	T T	stop_gained stop_gained	HIGH	NA18972.hp2 NA18984.hp1 NA18972.hp2 NA18984.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0046 a0003c0003t0002g0001 a0003c0003t0002g0046	2	420	0.0048	0	c.352 others(3): Show c.352G>T	p.Gly others(4): Show p.Gly118*	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	3/3	422/1563	352/357	118/118			chr9	TogoVar
AZGP1_chr7_99961730_99981031	99971947	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00673.hp1 HG01261.hp2 NA18972.hp2 others(4): Show HG00673.hp1 HG01261.hp2 NA18972.hp2 NA18981.hp1 NA18991.hp2 NA18998.hp2 NA19083.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0001 a0002c0004t0001 a0002c0006t0001	a0002c0004t0001g0048 a0002c0004t0001g0079 a0002c0004t0001g0090 others(3): Show a0002c0004t0001g0048 a0002c0004t0001g0079 a0002c0004t0001g0090 a0002c0004t0001g0111 a0002c0006t0001g0121 a0002c0006t0001g0122	7	432	0.0162	1	c.135 others(4): Show c.135dupC	p.Ala others(4): Show p.Ala46fs	AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding	2/4	146/1181	135/897	45/298			chr7	TogoVar
BGN_chrX_153489980_153514546	153505264	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0041 a0003c0010t0041	a0003c0010t0041g0172 a0003c0010t0041g0172	1	321	0.0031	-1	c.269 others(4): Show c.269delC	p.Pro others(4): Show p.Pro90fs	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	3/8	414/2353	269/1107	90/368		INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153505934	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0041 a0003c0010t0041	a0003c0010t0041g0172 a0003c0010t0041g0172	1	321	0.0031	-1	c.425 others(4): Show c.425delA	p.Lys others(5): Show p.Lys142fs	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	4/8	570/2353	425/1107	142/368		INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153508300	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0041 a0003c0010t0041	a0003c0010t0041g0172 a0003c0010t0041g0172	1	321	0.0031	1	c.963 others(4): Show c.963dupT	p.Pro others(5): Show p.Pro322fs	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	1109/2353	964/1107	322/368		INFO_REALIGN_3_PRIME	chrX	TogoVar
BOC_chr3_113206557_113292459	113216267	TAGA TAGA	T T	splice_donor_variant others(2): Show splice_donor_variant 5_prime_UTR_variant intron_variant	HIGH	HG01081.hp1 HG01256.hp2 HG01358.hp1 others(9): Show HG01081.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp2 HG02896.hp2 NA18961.hp2 NA18972.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0011c0026	a0001c0001t0015 a0001c0002t0026 a0001c0002t0047 others(4): Show a0001c0001t0015 a0001c0002t0026 a0001c0002t0047 a0001c0006t0051 a0002c0004t0015 a0002c0004t0029 a0011c0026t0015	a0001c0001t0015g0371 a0001c0001t0015g0372 a0001c0001t0015g0373 others(9): Show a0001c0001t0015g0371 a0001c0001t0015g0372 a0001c0001t0015g0373 a0001c0002t0026g0274 a0001c0002t0026g0360 a0001c0002t0026g0361 a0001c0002t0047g0363 a0001c0006t0051g0194 a0002c0004t0015g0357 a0002c0004t0029g0362 a0002c0004t0029g0374 a0011c0026t0015g0375	12	386	0.0311	-3	c.-83 others(12): Show c.-83_-82+1delAAG		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/20				33528	INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD4_chr19_15230519_15337539	15238833	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01496.hp1 HG01952.hp2 others(9): Show HG01175.hp2 HG01496.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp1 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG03579.hp2 NA18940.hp2 NA18972.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0007 a0003c0006 a0003c0011 others(2): Show a0002c0007 a0003c0006 a0003c0011 a0003c0026 a0008c0033	a0002c0007t0003 a0002c0007t0033 a0003c0006t0001 others(6): Show a0002c0007t0003 a0002c0007t0033 a0003c0006t0001 a0003c0006t0003 a0003c0006t0005 a0003c0011t0058 a0003c0011t0061 a0003c0026t0072 a0008c0033t0073	a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 others(9): Show a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 a0003c0006t0001g0091 a0003c0006t0003g0171 a0003c0006t0005g0031 a0003c0006t0005g0099 a0003c0006t0005g0117 a0003c0011t0058g0039 a0003c0011t0061g0101 a0003c0026t0072g0181 a0008c0033t0073g0152	12	208	0.0577	1	c.392 others(5): Show c.3929dupC	p.Gln others(6): Show p.Gln1311fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	19/20	4213/7231	3929/4089	1310/1362			chr19	TogoVar
BRIX1_chr5_34910711_34930996	34925207	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show HG00280.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19060.hp2 NA19064.hp2 NA19080.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0002c0003t0001g0051 a0002c0003t0001g0052	80	440	0.1818	1	c.793 others(6): Show c.793-3dupT		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTN3A2_chr6_26360198_26383312	26368051	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show HG00099.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG02040.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG03017.hp1 HG03669.hp2 HG03927.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18976.hp1 NA18983.hp1 NA18994.hp2 NA19003.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA20905.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0003 a0004c0005t0049 a0005c0006t0003 a0004c0005t0003 a0004c0005t0049 a0005c0006t0003	a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 others(6): Show a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 a0004c0005t0003g0056 a0004c0005t0049g0001 a0005c0006t0003g0001 a0005c0006t0003g0029 a0005c0006t0003g0057 a0005c0006t0003g0058	35	382	0.0916	0	c.-6+ others(4): Show c.-6+1G>A		BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	2/10						chr6	TogoVar
BTNL2_chr6_32388339_32412181	32394744	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show HG00438.hp2 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03490.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 others(10): Show a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0178 a0004c0003t0003g0179 a0004c0003t0003g0180 a0004c0003t0003g0181 a0004c0003t0003g0182 a0004c0003t0003g0183 a0004c0003t0003g0184 a0004c0003t0003g0185	45	453	0.0993	0	c.136 others(4): Show c.1360G>T	p.Glu others(4): Show p.Glu454*	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	6/8	1418/1564	1360/1449	454/482			chr6	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0008t0001 a0002c0002t0004 a0002c0002t0043 a0002c0002t0044 a0003c0003t0014 a0004c0004t0002 a0004c0004t0025 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(241): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0023 a0001c0001t0007g0048 a0001c0001t0007g0138 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0008g0006 a0001c0001t0008g0036 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0010g0020 a0001c0001t0010g0045 a0001c0001t0010g0130 a0001c0001t0010g0177 a0001c0001t0011g0017 a0001c0001t0011g0147 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0015g0022 a0001c0001t0015g0140 a0001c0001t0015g0142 a0001c0001t0015g0146 a0001c0001t0016g0016 a0001c0001t0016g0137 a0001c0001t0016g0245 a0001c0001t0017g0211 a0001c0001t0018g0011 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0020g0015 a0001c0001t0021g0049 a0001c0001t0021g0134 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0024g0021 a0001c0001t0025g0046 a0001c0001t0026g0024 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0035g0052 a0001c0001t0036g0145 a0001c0001t0036g0149 a0001c0001t0037g0127 a0001c0001t0037g0128 a0001c0001t0038g0133 a0001c0001t0038g0155 a0001c0001t0039g0051 a0001c0001t0040g0160 a0001c0001t0040g0176 a0001c0001t0041g0047 a0001c0001t0042g0065 a0001c0001t0045g0179 a0001c0001t0046g0238 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0001t0081g0148 a0001c0001t0082g0129 a0001c0001t0083g0093 a0001c0001t0084g0092 a0001c0001t0085g0150 a0001c0001t0086g0151 a0001c0001t0087g0152 a0001c0001t0088g0246 a0001c0001t0089g0118 a0001c0001t0090g0153 a0001c0001t0091g0119 a0001c0001t0092g0120 a0001c0001t0093g0121 a0001c0001t0094g0165 a0001c0001t0095g0126 a0001c0001t0096g0154 a0001c0001t0097g0181 a0001c0001t0098g0124 a0001c0001t0099g0156 a0001c0001t0100g0157 a0001c0001t0101g0084 a0001c0001t0102g0158 a0001c0001t0103g0183 a0001c0001t0104g0122 a0001c0001t0105g0139 a0001c0001t0106g0167 a0001c0001t0107g0123 a0001c0001t0108g0175 a0001c0001t0109g0159 a0001c0001t0110g0103 a0001c0001t0111g0171 a0001c0001t0112g0161 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0043g0070 a0002c0002t0044g0066 a0003c0003t0014g0013 a0003c0003t0014g0072 a0003c0003t0014g0073 a0004c0004t0002g0247 a0004c0004t0025g0248 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	406	414	0.9807	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6						chr13	TogoVar
C16orf89_chr16_5039122_5070956	5057216	AACAGAGT others(4189): Show AACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGAAGGAAAAGAAATAT ACATATATATATGTATATATATATGTGTATATATATATATAGTGGTATAT ATATACATAGTGGTGTATATATATAGTGGTATATATAGTGATTATATATA TCGTGATATATATATAGTGGTATATATATAGTGGTATATATATAGTGGCA TATATATATAGTGTGTATGGTAGTATATATATAAAGAAAAGAAATATATA TACTGGTGTGTGTGTATATATATATATATGCCACCATATATATATTTTTC TTTTTCTATTTTTTTATATGTATATATATAGAGAGCGGCATATATATATA TAGTGGCATATATAATGTAGTAGCATGATCTCAGCTCACTACAGCCTCTG CCTCTCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAA TTACAGGTGCATGCCACTATGCCCGACTAATTTTTGTATTTTTAGTAGAG ACGGGATTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAG TGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCCTCATTCATTTGTTTTTGTTTACAGAGTTCTTTCTGAT GATTCTCTTTTATTCTCTCTTTCTCTCTCTCGTTGTGTTTTTCTGATGCC CTACAGTCCAGTTCAGCAGGCAAAGCTATCTGTTTCACTGGCCTAACAGA ATCCCAAATGCCAGATCCCAAATCGGCTCAATTACACAGCAGGAGTATGA TAGGGGCCCTACTTCTCCCTCCTGAGGTCCCAAGTAGAAATCCAAAGCTC TGCTTATTTTCCTGGTGTGTAGCAGACAGAACTACACTGCCATGAGCCCT TTTTCATTTATTTCTTTTTTCTTTTTTTTTGAGGCAGAGTCTTAGTCCAT TGCCTGGGCTGGAGTGCAGTGGCGCAATCTTACTCACTGCAACCTCCGCC TCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCTCTTGTAGCTGGGAT TACAGGTGCACGCCACCACGTCCAGCTAATTTTTTTTTTGTATTTTTAGT AGAGAATGGGTTTCACCATGTTGGCCCAGCTGGTTTTGAACTCCTGGCCT CAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTTGGATTACAGGCATG AGCCACCACGTCCGGCTGCCCCTTTTCCTTTTTCCTTCCCCTTCCCCTGG CACGGCGGGGGCTCCCTGGGCACTCACCATTCTGGCCCAGAGGAAGAAGA GCAGTTGGTGGGACAGGCAGTAGCCTGAGCAGCCGGGCTTGGTCATGAGG CTCCTGCAGAGGTCTGAGAGGCCGCAGGGCTCGCTGCTGTCCGTCCTGGG GGAAAGTGGTTCCAAGCTGTTAAGGATGGAGCGCTGACTCTGCCCTGCGT CTTCCCAGCCCCCTAGTTGTAGTTGTTGGAACTCCCAGTAGATTCCAGAC ACCCAGCTGGGCATGGGGGTTGACAGAGACAATACAGCAGTCCTGCATTT TGATTTGCTAAATCTGGCTGCCCTAGCCCAGGAAAGATGACGCTAGAGCT ATTCTGGGGTTGAGGAAGCCACCAAGGCTGAAACTTCCTATTGCTCCATG GGCCAAATCACATCTTTTCCAGCCCCGAACAGTGGGTACTTGAACCCAGA CCACTTGGAATCTGGGCCCAACATGCTTATTCCTCCTGCACCAGCCAGGC GCGGTGGCTTACACCTATAATTCTAGCACTTTGGGAGGCTGAGGCAGGCA AGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAC CCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGTGCC TGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGAATC ACTTGAATCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCATCACTGC ACTCCAGCCTGGGAGACAGAGCGAGACTCCATCTCAAAATAAATAAATAA AAATAAAATAAAATAAAGTAAAAATAAAAAATACACACACAAATACAAAA ATTAGCCGGGCATGGTGGCGCACATCTGTAATCCCAGCTACTCAGGAGGC TGAGGCATGAGAATCACTTGAACCTGGTAGGAGGAGCTTGCAGTGAGCCG AGAAAGAACACACCACTGCACTCCAGCCTGGGGGACAGTGAGCCTCTGTC TCAAAAAAATAAAAATAAATAAAAATTTTTAAAAAGCAGAGGTCCTTGGC TGGGGCCCAGCCCCTCCGTGAATCCAGCTGTGTCCTGGCCTAAGCACTGC TCTGAAGGATGCTGACAGGATGCGGCCTGGGCACCGGCTGCCCACTTTGC CCATGGGCCCTGCACCTAGGGCTGCCCTGGGGCCTTGTTCCAAGCCCACC AAACACCAGGATAAAATGAGGAGCCCAGCTAGGCTCAGTCCTGTCTTCCT GGAGCTGCATCCTCACTGGGGATGGGGACAGGCTCATAATACAAATGTAA ATTGCATCTGTGGCTATAAGAGGTGCCAGGAGAGGCCCTCACAGGAGGTC TGCTATGTGCTGGGGTCAGAGATAGGATGGGGTTGGAGGTAGGATGCTGG CGCCAGCCCTGGAGGATGGGCAGACTTCCTGAGGCCCAGGGGGTGGAGTG GGTGGGGTGGGGGGAGCAAAGTCTTTGAAGTGGGAGGAAGCCTTGGAGAG TCTGAAAAGAGGCCTCTAGGGGCCTGGAGACTTGGAACTGCGGAGAGGAA TTGGGGATTTGTCCTGGGGCCTGGAGGTGGTGTGTTCAGCCATGGCTGCT GGAAGGCCTGCTGTGGCATGGGAGGCCAGCGGGCGGCTGGAGCAAGGGGG ACCCTGCTGGAGTAGGAGAGGGCAGTACCCGGCAGCTACAGGGAGCTGCA CCTGTGTCTGCACAAACCCCTGGCTTCAGCCCTAGGGCTTGGAGAAGGAG GAGCGGGACAGGACCAGCTGAGAACTAGTGCGTTTGGGTTTCCAGCAAAT AGGGCAAGTGCAGGGCCCACCCGGTTCCCAGCAGCTGCACCAGGCACACG TCACTTCTCTCCTCTGAGAATGAGTCCTGGGGCCCGAACGTGGGGTACAC CAAGGAGGCATCAGTGTGGATCCAGGCATGTGGGAGCTTCCAAAACCCGG GCTGGAGGGTCAGCTGGAACTCTGGCAGAGAGGACAGATAGATGGGGTGG GGTGTGGGGGTGACCCAGGAGCAGTGGGCCACCCTGGTGTCCCCACCTCC TCCTGCAGCCCTGCCCACTGGCAGGTGCAGCTCAGGGCTCTAAGCCCTGT CCCCTGGTCCCAGATTGGGTTTGAAACACTCAAGAAAGCTCCTTTTGCTT ATAAAACCATTTTTTCCCCTAATCAATAGGAACAGTGATGGGACGGGATT TGACTAAACCCACTGCATCCCATGGAAACCCCAGATAAATAAAAGGTTTA GTTTCCCAGGTGCAGGGCTCACGCCTGTCATCCCAGCACTTGGGGAGGCT AAGGAAGGAAGATCGCTTGAGGCCCAACGTTCAAGACCAGCCTAGGCAAC ATAGCAAGACTCTGTCTCCACAAAAATAAAAAAAGTAGCCAGGTGTGGTG GTGTGCACCTGTAGTCCCAGCTGAGGCAGGAAGGTTGCTTGAGTCTAGAA GTTGGAGAATGCAGTGAGCTATGATCAGCCTTTTTTTTTTTTTTTTTTTT TTTTAAGAGGCAGGGCCAAGAGCGGTGGCTCACGCCTATAATCCCAGCAC TTTCGGAAGCCAAGGCGGGCGAATCACTTGAGGTCAGGAGTTCAAGACCA GTCTGGCTAACACAGTGAAATCCCATCTCTACTAAAAATACAAAAAATTA GCTGGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATAGCATGAACCCGGGAGACAGAGCTTGCAGTGAGCCGAGAT TGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGA AAAAAAAAAAAAAAAAAAAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCC AGCTACTTGAGAGAGGCTAAAGCAGGAAAATCACTTGAACCCAGGTTGCA GAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01255.hp1 NA18612.hp2 NA18945.hp2 others(7): Show HG01255.hp1 NA18612.hp2 NA18945.hp2 NA18953.hp1 NA18965.hp2 NA18972.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19080.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0001 a0003c0007t0001 a0003c0004t0001 a0003c0007t0001	a0003c0004t0001g0027 a0003c0004t0001g0131 a0003c0004t0001g0141 others(6): Show a0003c0004t0001g0027 a0003c0004t0001g0131 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0150 a0003c0004t0001g0361 a0003c0007t0001g0126 a0003c0007t0001g0127	10	432	0.0232	-4196	c.359 others(16): Show c.359-976_628-1029del		C16orf89	ENSG00000153446.16	transcript	ENST00000472572.8	protein_coding	4/8						chr16	TogoVar
C17orf107_chr17_4894536_4907934	4900042	AACCGAAG AACCGAAG	A A	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp2 HG02071.hp1 others(11): Show HG00408.hp1 HG00558.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp2 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18972.hp2 NA18992.hp1 NA18993.hp1 NA19002.hp2 NA19065.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0008 a0003c0003t0001 a0003c0003t0008	a0003c0003t0001g0001 a0003c0003t0008g0001 a0003c0003t0001g0001 a0003c0003t0008g0001	14	442	0.0317	-7	c.175 others(14): Show c.175_181delCCGAAGA	p.Pro others(4): Show p.Pro59fs	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	2/3	402/3201	175/573	59/190		INFO_REALIGN_3_PRIME	chr17	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0010g0004 a0001c0001t0010g0010 a0001c0001t0010g0040 a0001c0001t0010g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	380	0.2026	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARD19_chr9_93091217_93118283	93111869	TTGTTTCC others(19): Show TTGTTTCCAGAGAACTCAGATTGCACA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0057 a0006c0010t0002g0057	1	358	0.0028	-26	c.305 others(35): Show c.305-9_321delTGTTTCCAGAGAACTCAGATTGCACA	p.Gln others(5): Show p.Gln102fs	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	4/6		305/552	102/183			chr9	TogoVar
CARD8_chr19_48203086_48260912	48231760	C C	CTT CTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show HG00642.hp2 HG01109.hp1 HG02135.hp2 HG02738.hp2 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA18947.hp1 NA18961.hp2 NA18972.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19067.hp1 NA19070.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0019 a0003c0006 a0003c0009 a0003c0019	a0003c0006t0003 a0003c0006t0006 a0003c0006t0016 others(3): Show a0003c0006t0003 a0003c0006t0006 a0003c0006t0016 a0003c0006t0048 a0003c0009t0002 a0003c0019t0006	a0003c0006t0003g0041 a0003c0006t0003g0045 a0003c0006t0003g0162 others(16): Show a0003c0006t0003g0041 a0003c0006t0003g0045 a0003c0006t0003g0162 a0003c0006t0003g0182 a0003c0006t0003g0183 a0003c0006t0003g0184 a0003c0006t0003g0185 a0003c0006t0003g0188 a0003c0006t0003g0243 a0003c0006t0006g0138 a0003c0006t0016g0279 a0003c0006t0016g0314 a0003c0006t0048g0086 a0003c0009t0002g0051 a0003c0009t0002g0052 a0003c0009t0002g0053 a0003c0009t0002g0054 a0003c0009t0002g0246 a0003c0019t0006g0115	19	362	0.0525	2	c.440 others(9): Show c.440_441dupAA	p.Val others(5): Show p.Val148fs	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	8/14	813/5610	441/1614	147/537			chr19	TogoVar
CATSPER2_chr15_43623503_43653844	43632936	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0009 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0009t0002 a0007c0012t0022	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(113): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0005g0054 a0001c0001t0006g0012 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0189 a0001c0001t0014g0124 a0001c0001t0018g0128 a0001c0005t0004g0046 a0001c0005t0004g0047 a0001c0005t0004g0048 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0009g0177 a0002c0002t0009g0196 a0002c0002t0009g0197 a0002c0002t0009g0198 a0002c0002t0012g0142 a0002c0002t0012g0158 a0002c0002t0023g0147 a0002c0008t0002g0139 a0003c0003t0008g0022 a0003c0003t0008g0129 a0003c0003t0011g0049 a0003c0003t0011g0050 a0003c0003t0021g0127 a0006c0009t0002g0140 a0007c0012t0022g0180	176	392	0.4490	0	c.117 others(6): Show c.1179-2A>T		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12						chr15	TogoVar
CCDC62_chr12_122769572_122832528	122798066	TTGTCAAT others(16): Show TTGTCAATATCTATGACAGATTTA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp1 NA18972.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0004 a0007c0012t0004	a0007c0012t0004g0020 a0007c0012t0004g0020	1	298	0.0034	-23	c.862 others(33): Show c.862-15_869delCAATATCTATGACAGATTTATGT	p.Ile others(5): Show p.Ile288fs	CCDC62	ENSG00000130783.14	transcript	ENST00000253079.11	protein_coding	8/13		862/2055	288/684		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCT6A_chr7_56046765_56068989	56061810	TCAGAATC others(25): Show TCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	T T	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0127 a0005c0011t0001g0127	1	428	0.0023	-32	c.141 others(41): Show c.1412_1443delCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	p.Ser others(5): Show p.Ser471fs	CCT6A	ENSG00000146731.11	transcript	ENST00000275603.9	protein_coding	12/14	1496/2584	1412/1596	471/531			chr7	TogoVar
CD40_chr20_46113314_46134858	46128304	C C	CTTT CTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show HG01433.hp1 HG02145.hp1 HG03927.hp1 NA18612.hp1 NA18612.hp2 NA18956.hp1 NA18956.hp2 NA18967.hp1 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18987.hp2 NA18994.hp1 NA19065.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0002g0007 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0188	15	416	0.0361	3	c.647 others(14): Show c.647-5_647-3dupTTT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258			chr12	TogoVar
CFHR2_chr1_196938738_196964622	196950930	AAATT AAATT	A A	frameshift_variant frameshift_variant	HIGH	HG02523.hp1 NA18945.hp1 NA18969.hp2 others(3): Show HG02523.hp1 NA18945.hp1 NA18969.hp2 NA18972.hp1 NA19006.hp1 NA19072.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0013 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0013 a0002c0004t0001g0050 a0002c0004t0001g0051	6	370	0.0162	-4	c.334 others(11): Show c.334_337delATTA	p.Ile others(5): Show p.Ile112fs	CFHR2	ENSG00000080910.14	transcript	ENST00000367415.8	protein_coding	3/5	477/1498	334/813	112/270		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRDL2_chr11_74691429_74736426	74713457	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00558.hp2 HG02027.hp2 NA18972.hp2 others(6): Show HG00558.hp2 HG02027.hp2 NA18972.hp2 NA18973.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA19076.hp1 NA19083.hp1	a0002 a0002	a0002c0010 a0002c0011 a0002c0012 others(3): Show a0002c0010 a0002c0011 a0002c0012 a0002c0014 a0002c0015 a0002c0016	a0002c0010t0001 a0002c0010t0002 a0002c0011t0001 others(5): Show a0002c0010t0001 a0002c0010t0002 a0002c0011t0001 a0002c0011t0002 a0002c0012t0001 a0002c0014t0001 a0002c0015t0001 a0002c0016t0001	a0002c0010t0001g0071 a0002c0010t0002g0335 a0002c0011t0001g0132 others(6): Show a0002c0010t0001g0071 a0002c0010t0002g0335 a0002c0011t0001g0132 a0002c0011t0002g0321 a0002c0012t0001g0034 a0002c0012t0001g0056 a0002c0014t0001g0155 a0002c0015t0001g0101 a0002c0016t0001g0167	9	392	0.0230	1	c.217 others(4): Show c.217dupC	p.Arg others(4): Show p.Arg73fs	CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	3/11	755/1908	217/1290	73/429			chr11	TogoVar
CHST10_chr2_100386860_100422668	100415112	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18972.hp2 NA18980.hp1 NA19003.hp1 others(2): Show NA18972.hp2 NA18980.hp1 NA19003.hp1 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0020 a0001c0002t0001 a0001c0002t0020	a0001c0002t0001g0026 a0001c0002t0001g0122 a0001c0002t0020g0053 a0001c0002t0001g0026 a0001c0002t0001g0122 a0001c0002t0020g0053	5	364	0.0137	0	c.-10 others(6): Show c.-103-1G>A		CHST10	ENSG00000115526.11	transcript	ENST00000264249.8	protein_coding	1/6						chr2	TogoVar
CLYBL_chr13_99601690_99897570	99866380	C C	T T	stop_gained stop_gained	HIGH	HG01978.hp1 NA18972.hp2 HG01978.hp1 NA18972.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0020 a0005c0006t0001g0109 a0005c0006t0001g0020 a0005c0006t0001g0109	2	218	0.0092	0	c.775 others(3): Show c.775C>T	p.Arg others(4): Show p.Arg259*	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	6/9	781/1181	775/1023	259/340			chr13	TogoVar
COL6A5_chr3_130340672_130489846	130471876	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18972.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(18): Show a0001 a0004 a0006 a0008 a0009 a0022 a0027 a0035 a0047 a0048 a0058 a0064 a0065 a0069 a0074 a0080 a0081 a0084 a0087 a0090 a0091	a0001c0001 a0001c0014 a0001c0040 others(23): Show a0001c0001 a0001c0014 a0001c0040 a0001c0082 a0004c0003 a0006c0005 a0008c0010 a0008c0026 a0009c0009 a0022c0024 a0027c0089 a0027c0090 a0035c0028 a0047c0084 a0048c0099 a0058c0107 a0064c0061 a0065c0060 a0069c0056 a0074c0106 a0080c0069 a0081c0080 a0084c0049 a0087c0076 a0090c0052 a0091c0078	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0002 a0001c0040t0002 a0001c0082t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0006c0005t0001 a0006c0005t0002 a0006c0005t0003 a0008c0010t0001 a0008c0010t0005 a0008c0026t0009 a0009c0009t0002 a0022c0024t0002 a0027c0089t0002 a0027c0090t0002 a0035c0028t0001 a0047c0084t0002 a0048c0099t0002 a0058c0107t0003 a0064c0061t0002 a0065c0060t0005 a0069c0056t0001 a0074c0106t0003 a0080c0069t0001 a0081c0080t0011 a0084c0049t0001 a0087c0076t0001 a0090c0052t0003 a0091c0078t0002	a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 others(98): Show a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0003g0086 a0001c0014t0002g0185 a0001c0014t0002g0201 a0001c0014t0002g0238 a0001c0014t0002g0250 a0001c0014t0002g0255 a0001c0014t0002g0264 a0001c0040t0002g0240 a0001c0040t0002g0241 a0001c0082t0002g0253 a0004c0003t0001g0022 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0138 a0004c0003t0001g0207 a0004c0003t0002g0193 a0004c0003t0002g0194 a0004c0003t0002g0197 a0004c0003t0002g0199 a0004c0003t0002g0236 a0004c0003t0003g0087 a0006c0005t0001g0021 a0006c0005t0002g0008 a0006c0005t0002g0228 a0006c0005t0002g0230 a0006c0005t0002g0252 a0006c0005t0003g0017 a0006c0005t0003g0039 a0006c0005t0003g0041 a0006c0005t0003g0081 a0008c0010t0001g0108 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0169 a0008c0010t0005g0045 a0008c0026t0009g0164 a0008c0026t0009g0165 a0009c0009t0002g0094 a0009c0009t0002g0095 a0009c0009t0002g0096 a0009c0009t0002g0097 a0009c0009t0002g0100 a0009c0009t0002g0101 a0009c0009t0002g0281 a0009c0009t0002g0282 a0022c0024t0002g0003 a0022c0024t0002g0102 a0027c0089t0002g0200 a0027c0090t0002g0280 a0035c0028t0001g0099 a0035c0028t0001g0104 a0047c0084t0002g0271 a0048c0099t0002g0229 a0058c0107t0003g0072 a0064c0061t0002g0267 a0065c0060t0005g0042 a0069c0056t0001g0114 a0074c0106t0003g0078 a0080c0069t0001g0134 a0081c0080t0011g0059 a0084c0049t0001g0126 a0087c0076t0001g0274 a0090c0052t0003g0011 a0091c0078t0002g0276	104	292	0.3562	-1	c.777 others(5): Show c.7772delT	p.Leu others(6): Show p.Leu2591fs	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/41	8110/8969	7772/7845	2591/2614		INFO_REALIGN_3_PRIME	chr3	TogoVar
COX7B2_chr4_46729827_46914245	46734988	G G	GGGATAGG others(9): Show GGGATAGGTTCCATTCT	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0003 a0000c0002t0003	a0000c0002t0003g0233 a0000c0002t0003g0233	1	300	0.0033	16	c.189 others(23): Show c.189_204dupAGAATGGAACCTATCC	p.Pro others(4): Show p.Pro69fs	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	3/3	394/556	204/246	68/81			chr4	TogoVar
CPN2_chr3_194334768_194356328	194341178	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0010 others(4): Show a0002 a0005 a0010 a0011 a0013 a0014 a0018	a0002c0002 a0002c0011 a0002c0014 others(7): Show a0002c0002 a0002c0011 a0002c0014 a0002c0016 a0005c0006 a0010c0030 a0011c0029 a0013c0028 a0014c0027 a0018c0024	a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 others(17): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0017 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0011t0003 a0002c0014t0002 a0002c0016t0005 a0005c0006t0001 a0005c0006t0003 a0010c0030t0003 a0011c0029t0001 a0013c0028t0003 a0014c0027t0003 a0018c0024t0001	a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0006 others(62): Show a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0016 a0002c0002t0003g0031 a0002c0002t0003g0039 a0002c0002t0003g0068 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0093 a0002c0002t0003g0106 a0002c0002t0003g0122 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0140 a0002c0002t0003g0161 a0002c0002t0003g0164 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0179 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0198 a0002c0002t0003g0209 a0002c0002t0005g0018 a0002c0002t0005g0048 a0002c0002t0005g0149 a0002c0002t0005g0151 a0002c0002t0005g0169 a0002c0002t0007g0011 a0002c0002t0009g0025 a0002c0002t0009g0168 a0002c0002t0013g0174 a0002c0002t0017g0061 a0002c0002t0021g0153 a0002c0002t0022g0211 a0002c0002t0023g0090 a0002c0002t0024g0172 a0002c0011t0003g0040 a0002c0014t0002g0201 a0002c0016t0005g0148 a0005c0006t0001g0028 a0005c0006t0001g0050 a0005c0006t0001g0070 a0005c0006t0001g0074 a0005c0006t0001g0108 a0005c0006t0001g0111 a0005c0006t0001g0112 a0005c0006t0001g0119 a0005c0006t0001g0125 a0005c0006t0001g0136 a0005c0006t0001g0147 a0005c0006t0001g0154 a0005c0006t0003g0124 a0005c0006t0003g0142 a0010c0030t0003g0120 a0011c0029t0001g0126 a0013c0028t0003g0089 a0014c0027t0003g0210 a0018c0024t0001g0113	136	440	0.3091	0	c.152 others(4): Show c.1525C>T	p.Gln others(4): Show p.Gln509*	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	2/2	1615/3025	1525/1638	509/545			chr3	TogoVar
CPNE1_chr20_35621044_35669900	35627312	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02717.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG04115.hp1 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18979.hp1 NA18988.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 others(41): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0011t0001g0078	46	272	0.1691	1	c.120 others(5): Show c.1203dupT	p.Ala others(5): Show p.Ala402fs	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/16	1344/1952	1203/1614	401/537			chr20	TogoVar
CR1_chr1_207491157_207646765	207538109	TATATATA others(18532): Show TATATATATATATATCACAATGAATATTGCAGAAAATTAAAGCAAAGAGT AAGAAGAGTTAACCAAATGTTCCCTGAATGCAGTGGGAAAAGATGAAAAG GAGAAGACAGGCAAGCACAGTGGCTCACACATGTAATCCCAACATATTGA GAGGCCGGGGCAAGAGGATCACTTGAGCCCAGGAGCTCAAGACCAGCCTG GACAACATGGCAAAAACCCATCTCTACAAAAAAGTATAAAAATTAGCTGG GCATGGCAGCATGTGACTGTAGTCACAGCTAGGCAGGAGAATGAAGTGGG AGGATCACCTGAGCCCAGGAGGCTGAGGCTTCAGTGAGCCTTGATGGCAA CCCTGCACTCCAGCCTGGATGACAGAATGAGACCCTGTCTCAAAAAAGGA AAAAGAGAAGACATATGTAACACAGTGTCAGGATTCAAAATACATGTAGC AAAAATTCCAGAAGGGTAAGCAAATAAGCCCATACCTAGCCATCACTAGG GAAACTTCTGTGTTTCAGGGATAGAGAAAAAAACTCTGATTCCAGAAATA AAATGTGAAAATATAATACCCGCAAAAGAAATAAATTTATTGACACCACA TTGATTCTATATTGTATAAGATATATTGTATAACACTAAATTGTAGAAGA TAGCACTTCTCTTGAGCCAAGCTAATATGCACACCTAGAGGCTCCAGGTA CACATTAAAGGATAAGCAAAGACACAAAAATTGTACCATTTAAGTATGTT TCCCAGGCAATTCATAAGCAAATTTTTAAAAAGGAGAATGATGAATTCCA AAGGAAATCTCAATGAGATAGGATGTAGGTAAAAAGAAAAAACAACAATA AAAAAAACATACACACAAAATCTTGGCAATGTAATAATAATTTATTAATA ATCTCTCTAAACTCATAGAATATATCAATAAAACTAGAAAATGTGAGACA GCAAGAAAAGATAGGCTAGACTTACATTACAGAAAAGATGAGTAGACTGA CTATATAGAGTTTGACTCTAAAATTGAGAAAAGAGGTTTAAATATGTGTC ACGTGTATATGTATAATATACATGCACACATATAAAATGAAATTCCTCAC TGGAAAAAATATTAAGTTTAATTTCCAAATTATTAGAATGACTAAAACAG TTGAATCTATCTGTTCCATATAGTAATTGAGGGGGAAGGAAAAGGAATAG CAAGGAATCCATTTTTCTCTTCCACCAGAAATAAGCTCCCTCATGTTTGG GTCAGGTCACTTTATTCATTGCTTTCTCCACATCCTCATCATTAGGCATC ATGAAATCAATGAAAAGGCAGTGAAAGAATGATGATGAAAGCTAATCAAA TGTATCATTTACCTCAATACGTTTGGTTTAATCTTCTTGTTGAAAGACAA ATTCTCCTAGACAGGATCAAAAGCAACATATCTTGTATTTATAAAAAACA TGTCTCAAGTAAAATGACATAGTATTATACACACACACACACATACACAC ACACACACACATTAAGGGAAAATGCAGACAAAAAATGGCAGAAATAATAT TTAGAGAAAGATAGAATTTAAGAAAAAAAATTGTCAAACAGGTCTGCAAA ATAATTGTTTTATTTTGGTGCCAGTTACAGTCCGCAATGAAGCGAAGATA TTAAGAAGCAAAGTGGGCCAGGAGAAATTAGAGCAGAAATATCTCTTTCA ATAGTGAGAGAATAGGAAAAAGAAGTAGAAAAGCTGGGAACAATAGGTAA AGTTTAGGCTAGGCCTTAGACTTCTCCTGCATTGTAATCCCTCTGGTTTG CCACATATGCATGCTGTCAGGAAGTTGATGAGGTATGTACAGCACAATTT ATTTTCCATTTTTTGCCTTTAGGCACCGACTCATTGGTCACTCATCTGCT GAATGTATCCTCTCGGGCAATGCTGCCCATTGGAGCACGAAGCCGCCAAT TTGTCAACGTGAGTTGAAATCTCTTTCCCCATTCACCCCACCGTTTAATC CTAGAGTTGTCCTCCTAGAATTACAAAGAATGGATCTCATCCCTCTTGGA AATGGTATCCTTCTCATATTTGAAGAATCCAGTCATATCCTTAAAATGGC TCACAGCATTCCAAACTTCCACCTTCAGCTAGAAATGCTTTTTTATTTTT TCTTATCTCAAGGTCTAATTTTTTTTAAACTAGTCTTTAGCTCACTTAAA CAGTCCCCCAATTTCATCCTCTGTTGGGTGAACACCTCCCAGTTTAAAGA GCATTTTATTTAGTGAAGTCAACAAATACAAAGTCAGTGAAAGAAACCCC ATATCCTCTCTGCAAGCTCTTAGTATCACATCAGATATTCAAGCCATGCA GCTCTTTCTTCCTTCTTATTCTTTGTCTAAACAGGATCATGCCATCTTCC CTGTGAGTTGTTTGGAAGATGAGCTTTCTACATTTTGGGGAGCAAAGACG AATGAGCAATTGCAAGCTAACAAGGAATATAAAATGTGTATAATCCTGGG TTTAGTGATGGTGTGAGGAAATCAGCAATTTCAAACCCAGTTGGTGGGAG GATAAGTGGGAACAAACTTTGTAGAAGGCCAATAAACTGGCTGGGCACTG CCCTACGGTAGAGTAGGACACAGTATTCAGTTCTTCCAAGATCAGACGAG ATTGGGCGCATTTAGGGTGGTATGGTTGTAGATCAGTATCCAGTTCTTTT TATTATTTCTGAATCTGTAAGTATCATGTTTATTATATGTAATATTGTAT ATTTGTACTTTGTCTTTGTTAGTTCTTCCAGAGCTTTTGTTCTTATTATT TAATAAAGATGTTATACTGAGCCACATGTGGTGACTCAAACGTGTAATCC CAGCACTTTGGGAGGCCTAGGTGAGCAGATGGCTTGAGTCCAGGAGTTTG AGACCAGCCTGTACAACATACTGAAACGCTGTCTCTACAAAAATACAAAA ACTATACGGGCATGGTGGCACATGCCTGTAGTCCCAACTACTCAGGAGAC TGAGAGGTGGGAGGATTGCTTGAGCCAGAGAGGTCGAGGCTGCAATGAGC CATGATCGTGCCACTGCACTCCAGTCTGGGCAGCAGAGCAAGACCTTGTC TCAAAAAAAATGCTATGCTGTATGCTTTATTATATTAATATCCAATAGAA TAAAGACACATGCCTTCTATATAGAGAGAACTAAATTAATAATGGTGAGA TAACAGTTAAATTCTCATTTAGCAGGAGAAATAAAAACATAGACTATAGG CTAGGCACAGTGGCTCATACCTGTAATCCCAGCACATTAGGAGGCTGAGG TGGGCAGATCACTTGAGGTCAGTAGTTTGAGACCACCCTGGCCAACATAA TGAAACCCCGCCTCTACTAAAAATACAAAAGTTAGCCGAGTTTGGTGGCG CATGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCGCTTG AACCTGGGAGGCAAGGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCC AGCCTGGGGAACAGAGTGAGGATCTGTTAAAAAAAAAAAAAAAAAGTGGA CTCTAATAATACATGGACACATTTAGTGAAATAAACTTAACTGAGTAGAG CAGAACTTATAATATTTTAAAACTGTAAGAACATGTCTGTACATTAGCAA ATAGTAGATGAGAATAGTATTTTCAATATTTACTTCTGGTAATTTGGAAT TAAAAAAAAAACTTTTGGGAAAATTTACAATAAAGTATGATTTTAACAAA CCAGGCTAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGAAAAGC AGAGGCATGCAGATTGCTTGAGGCCAGGAGTTCAAGACTAGCCTGCCCAA CATGGCCAAACCCCATCTCTACTAAAAATACAAAAATAAACCAGACATGG TAGTGCATGCCTGTGATCCCAGCTACTCGGGAAGTTGAGGTAGGAGGATT GCTTGACCTGGGAAGTGGAGGTTGCAGTGAGCCATGATCGTGCCACTACA CTCCAGCCTGGGTGACAGAGCAAGACTCTGTCCCAAGGTTTTGTTTTGGT TAACTTGCTGTCCCTTTTTCCAGGAATTCCTTGTGGGCTACCCCCCACCA TCGCCAATGGAGATTTCATTAGCACCAACAGAGAGAATTTTCACTATGGA TCAGTGGTGACCTACCGCTGCAATCCTGGAAGCGGAGGGAGAAAGGTGTT TGAGCTTGTGGGTGAGCCCTCCATATACTGCACCAGCAATGACGATCAAG TGGGCATCTGGAGCGGCCCGGCCCCTCAGTGCATTATACCTAACAAATGC ACGCCTCCAAATGTGGAAAATGGAATATTGGTATCTGACAACAGAAGCTT ATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAGCCTGGCTTTGTCA TGAAAGGACCCCGCCGTGTGAAGTGCCAGGCCCTGAACAAATGGGAGCCG GAGCTACCAAGCTGCTCCAGGGGTGAGTCTGACTGAGGCCTAGTAGGGCC CTGCAAGTGACATGCGTTGCTGTTGGATCAGGAGATTAGTATTTGTTCAC GGGGAGGGATGTGTGCTGAGCAGGGTCGAGGAGCAAATTTTCTAAGTAGT GAACATGAAATTCAGGTGTGTAGACATGCACATGTGCTGAAATTGAGAAG CAAAGCTCAACCTGGGCAAGGGATATGATGTTTCTTTGGGGTTCTTATAA ACAGATCTATCAATTACCTTTGAGTATAATAATGTTTGATACAAAATGAG TGATTCCTCTGCCCAGGCACTATAATACAGGCTACATGTGAATTTTAATC CTGAAAACAAAGTTATTAGGTAGTTCCCAGTTGTTCTATGTTTGTCTGTT TTGTTTTGCTTGAGATACTGTCTTGATCTGTCACTCAGGTTGGACTGCAG TGGTGCCATCATGGCATACTTCACCCTCCACCTCCCTGACTCAAGCAAGT CTCCTGCCTGAGCCTCCCAAGTAGCTGGGAATGTAGGTGCATGCCACCAT GCCTGGCTAAGTTTTTTATATTTTTTTTGTAGGGACAGAGTCTCACCATG CTGCCCAGGCTGGTCTCAAACTCCTCAGCTCAAGCACCCACCCACCTTGG GCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTCTA TGTTTTACAGAGAATATGTGCCTTAGACACATCAGATAACATTCTGAGAC AGTAACTTGCAGACAAAACTGGATTGCAAGTCCACCTCACTCCAGAGCCT TGGCTTTGCTCATCAGCATTCAGTCATGAAATCAAAACTTACTCTAGATA CTTTCAAGGAGGGAGGGATTTCATGCAGGTTGTATTAGTCTGTTCTCACA TTCCTATAAAAAACTACTTGAGCCTGGGTAATTTATAAAGAAAAGATGTT TAATTGACTCAGAGTTCTGTAGGCTGTACAGGAGGCATGGCTGGGAAAGT TACAATCATGGTGGAAGGCAAAGAGGAAGCACGCATATCTTCATATGCTT GGCAGGAGAGAGAGAGAGAGCAAGGCAGAGGTGTTACAGACTTTGAAACA AGCAGATCTTGACAGAACTCTATCACAAGACAGCACTAGGGTGATGGTGC TCAACCATTAGAAACCACCTCCATGATCCAGTCACCTCCCACCAGGCTCC TTCTCCAACACTGGGAATTACCATTTGACATGAGATTTGGGAGGGGACAT AGAGCCAAACCATATCGCAGCTAATAGGTCACAAAAATGTTAGAAGGGCA GGAAAAGCAATAGGACAAAGGCAAAGTTACGAGAGATCAGGGAGCTGCTG TGGCTCCCAGTCTACAGCACAGGAGCCTGGAGTGATGGTGAAATGGCCAG CCCCTCCCACTGAGCAGGCAGCTCCCTGTAAGCTGCTAATACTGCAGGAG CCACCATTGCTGCCAGAATGCAGCTGATATTGCTGGAGCCAAAGTCATTG GCATCGTTACAATTGAAGCTGTAGCTACTCACTGAAGCCATCTATACTGC CACTGCCTGAGCCACTTCTAGAAGTAGAACAGATTCTGCCATCATCCTGC TTTTTAATTTGGTATATATGCCTCCAATTGGCAGAACCTAACCAGAGCCT AGCTATCAAGGAAGATGAACGATTTATTTTTAAGGCCTCCATTGTTAGCT GTCAAAAGACAGTGCAGAAATGTGAGGCTGGGGGCCAACAGAAATTTAAC CAGCACAGCACCTCAATATTACATCACCAGGCATTGATTAGTCCAGGGAA ACACTGGGTGATGAGCCCTGAAAATGGACATTACAGCATCAGAGTATTTA CAAACTCCTTAAAGAAGTCATTTTTCTATTCCAATCCCCCATTTGATGCT TGAGAAAGCTGAAGTCCAGAAAAGGGAACTGATCTGCTCAAAGACAAACT GAAATTACTTTTTCCATTTTATAACAGTTTTATGTAATTTATTTGAGATC CAAATGTGTTTTGATTTCCCAAGATCAGATCAACTACATTAAGAGAGAGC CTGAGATGCCGTTACAATATGTTGTGTGAAATTACACTCTCATTATGGTG ACAGTAGGTCTTTCAGATTTTGTTCGACAGTTTCCCACCTTCTCACTGAA GTGAAATGAATGACTAGGCAGCACCTTGCTACATAGCATGAAGAGAGGAG ACCCATAGTTCTTTACCACCCTATGTCAGGTGGCCGCTGAGAGAAGACTT GAAAGGAGATGAGCATAGATGTATGGACGCTCTTTGTTGCACCAGTGTGA TAGGTGATGGAGGGACCTATTAGATGGGACATGGGCAGGGGCACTCCTTT ATTGCTTAAAATGCAAGACTAAATTGGTGATGCCTTTCTAGAAAGGAAGT ATGAAGATACAAAAATCCATCATTCCTCCCAATTTTGTACTGGGTGAACA GTAATTGGAAGCATTCTAGAAGGAACTGTCCATTGTGAAATCTTAGTTGC ATACTTTAGATGAAAAACAATGAATTGGAGATACCTCTGTTTTAGTCACA GTTGTGCCATGTGTCAGTTCTATGACTGATGGCAAGACATCTTCCTTGCC CCGTGTATTTAGTTTATCAATGTAATAAGGCTGTTATTCTAACTTTATTA TTATATATAGATTCGTAATTATTATTCCCTTGGCCAGTTTAACAGTGAGA AAAAAGTTGTTTTCACACAATTAGCTGTACTTTGTTTCTCTCTCCCCAGT ATGTCAGCCACCTCCAGATGTCCTGCATGCTGAGCGTACCCAAAGGGACA AGGACAACTTTTCACCCGGGCAGGAAGTGTTCTACAGCTGTGAGCCCGGC TACGACCTCAGAGGGGCTGCGTCTATGCGCTGCACACCCCAGGGAGACTG GAGCCCTGCAGCCCCCACATGTGAAGGTGACTAGACTCTTATCTGGCTTG ATATTTTTAGCTTGCGTCTTTATTCTCCACATGCCAGTGATTTCTGTTCG TTTTTCTTTATCTCCAGTGAAATCCTGTGATGACTTCATGGGCCAACTTC TTAATGGCCGTGTGCTATTTCCAGTAAATCTCCAGCTTGGAGCAAAAGTG GATTTTGTTTGTGATGAAGGGTGAGTATGAGCTTGCCTGACCTGCTGGAC ATTGAAATTGGGGTTGGGAATCAGTCTAAAAAGGGGAGATTTGGTGTGGC ACACACACACACACCTTCAGAGAGATGAACTTTCGAAAGTATACCTAGGA AGAAAGGAAAGAAACATATAGAACTAATAACATGAGATATGAAGAGGAAA CTGGAACATATATTAACTGGCAAGTTCAAAGGCAAGTATAACTACTGGTT ATGAATATATAAGTAACACATTAAGCAAAAAATATCAGCCAGAAACGGTG GCTCACCCCTGTAATCCTAGCACCTTTGGGAGGTTGAGGCGGGCAGATCA CCTGAGGTCAGGAGTTGGAGACCAGCCTGGACAACATGATGAAACCCTGT CTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCATGTGCCTGTAA TCCCAGCTATTCCGGAGGCTGAGGCACCAGAATCACTTGAACCTGGGAGG TGGAGTTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCGTGGACAA TAAGAGTGAAACTCCATCTCAGGAAAAAAAATCATATTTTACAAGCAAAA AGGAATATGAGTAATTTAGAGAGTCCCAGGAAAAAACTGGAAGTAACAAA AGCTTATTATAAAAAGCTAGGATCATTTGTGAATCATTTCAGTAAATTCT TTAAATCGTCAACAGTGAAATTTGTAATAGGACTGAAAATGTAAAAATCA GCATTTTTTAAAAAAATCCAGCCATATATCATCTGGTTAATCATGGGCTC TGGGCTCTGAGCTGGGGTCCTGATGGCTGCTGTTAATATTTCCAGCAAGC TCATTACCTTGTTTATGTCCACCTAGTGCTCTTCGCAGGGTGCACATCTC TACACGGGAGCTGACCGGCATGGGCAACAAAGCACCTGATCCCAAAATGT AACACAGAATCTTGGCAGCCTCCAAATGCCAGCACCCAGTAAGAGTTAGG AGGGCATCGGGGTCCAGCAGACATTGAGAATTTTCGACAATTGCATGCAA AAAATAAGTCCTCTCTTCTTTCCTTTTTCCCCTAGAATATTCATGCTTAC TCTTCAGCAGCCCAAATTGCCCTTTTGAGCCTTCTTCACGCCATCACAGA TGTGGAGATGAAAGGACAGTCTGTTCTCTCGCCAGCTATTTCCCACTTTT CCACTCCAAACTGGGAGCTGTTTTACTTGCTGTTCCAGGGTCAGAGTTAG GAAGGCATTACATTAGAAGACTGGGTTTCTAATAACAACAATGAGTGATT TATCAGGTTATCATGGAGTAATCAGTGAAACTCCAAGCCTGGGTCCTGGG TCAAGGGGATGGCGCCTATGTCATGACCACCTTTTTCAGTTCAAGCAGGA CTATCATGTGACCAAGCTACTGCATTTTGCCATTCTATATTGTTCCCTTC TGGAGGCTGTGATTTTTCCAGAATAAGGTAGCCTGTGCAACTCTGCCACC TGCTGGCCTAAGGTCCTAATAATCCTGAAATTGGGGCTGGGCCTTAGATT GTGAACTAAGGGTTCTCTTGGCTGAAACAGCTCACACTATTCACTCCTAT TTTCTTCTTTAGATTTCAATTAAAAGGCAGCTCTGCTAGTTACTGTGTCT TGGCTGGAATGGAAAGCCTTTGGAATAGCAGTGTTCCAGTGTGTGAACGT GAGTAGCAGGAGTAACATTTCAGGCCAGTCTCTCCCTTCATCTGTTCAGT ATTTGACCCATGACCTCCCCTAATGTGGTTCTTCAATTTTCTAGTTTGAA TTATTGATTTGAAAATTGCTTATTTTAATAATGTTTGGTTGTGAATCAAA TGTATACATCACCTGTCTTTGGAACCATCTGATCTGTCTCTGTCCTTCTG TATTCTGTGTTCTAGTGCGATAAATCCTATGGTAGCATGATTCTAGGTCA GGAGAGATTAGATAATGTGAAGCCTTAACAATTTGCTTTCTTTCTCTCTT TCTTTTGTTTCTTTTTTCTCTTCCTTCCTTTCTTCAGTTCTTTCTTCCCT TCTCTTTCTCTCCCCTTTCTTCCTTCCTTCCTCCTTCTTTCTTTTCCATT TTGTTCTTCCATCAGGTGCAGTCTACAATTTTTGTATATATTTGATAATA CACAAATATTAAACATGCCTTTATTTAATCAATATTTATTGATCACATAC TTTGTGCCTGATGTTCATCTAGCCACAGGAGTTATATCAGTGAACAAGAT GAATGAATTCCCTGTCCCCATGTTGTTTCCACTCAGTTGGGGAAAGGGAC AAGAAAAAAAATAAATACGATGCTATGAAGATAGTAGAGCAAAGCATTTA GGCATGAGGGAAAAGTGAGGAGCAACATTAGACAAGGCGAGCAGTTTGAG ACTCCTTAAATTCTCAAAACATGTACCTAAATAATTTATGCTGAGAGATT CATAAATAATGTCATTTTTAAAAATTTATTATACTTTTAAGTTCTAGGGT ACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTT GGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAAT GCTATCCCTCCCCGCTTCCCCCACCCCACAACAGGCCCCGGTGTGTGATG TTCCCCTTTTTGTGTCCAAGTGTTCTCACTGTTCAATTCCCACCTATGAG TGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAA TGATGGTTTCCAGCTTCATCCATGTCCCTAAAAAGGACATGAACTCATCA ATTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT AATCCAGTCTATCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTA TTGTGAATAATGCAGCAATAAACATATGTGTGCATGTGTCTTTATAGCAG CATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATCGCTGGGTC AAATGGTATTTCTAGTTCTAGATCTTTGAGGAATCACCACACTGTCTTCC ACAATGGTTGAACTAGGTTACAGTCCCACCAACAGTGTAAAAATGTTCCT ATTTCTCCACATCTTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGAT AGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCA TTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTGTTAGCT GCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCCACTT TTTGATGGGGTTGTTTTTTTCTTTTAAATTTGTTTGAGTTCATTGTAGAT TCTGGATATTAGCCCTTTGTCAGATGAGTAGATTGCAAAAATGTTCTCCC ATTCTGTAGGTTGTCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAG AAGCTCTTTAGTTTAATTATATCCCCTTTGTCAATTTTGGCTTTTGTTGC CATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTGTGTCCT GAATGGTATTGCCTATGTTTTCTTCTAGGATTTTTATGGTTTTAGGTCTA ACATTTATGTCTTTAATCCATCTTGAATTAATTTTTGTATACAGTGTAAG GAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGT ACCATTTATTAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTGTCAGGT TTGTCAAAGATCAGATGGTTGTAGATGTGTAGTATTATTTCTGAGGGCTC TGTTCTGTTGCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTG TTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTTTGATG CCTCCAGTTTGTTCTTTTGGCTTAGGATAGACTTGGCAATGCAGGCTTTT TAAATAATGTCATTTTTAAAAAATGAGCCCCATATGTTCAATAATGAGTA GACTACTGATTTCTCCTAGTCTCCCCATTTATAATTTCCCCAATAGAAGA TAGAACTTTGCTTCATTTCTTGATTCTAATGATTGGGAAATGTGTTTCTT TAGAAAACCATGAAATTTTACTAAAATGTTTATGTTGTTAGAAATGGACA TCTTACAGTGCTTTTTAGAGTAAAATTTTGGAAGAACATAACTTATATAG AGATTCTTGCTGTCTAAGAAATTCAGTGCTCCTTGAAGCAGCATGACAAA TTTCTGTTCTACCATCATGAATGAAAGCTCATTGATTGGACTACTCAAGC TTTCTCTTATTTTTCATAACTGTTGCTAGTTAAAGTAGCTTCTTCCAAAT TCCAGTTCTAATGAAAAATGCCAATTAGAAATGAGGAAGAAACTGTTCTA AACAAATCAGCAGATGCTAGAAAGGAGAAACAACTTGAAACCTGACCCAG AAAGTTAAAAGAGAAAATAAATCATCAACAGACCTAGACATTTTCAAAAG CAAAGCCATCTGAATCCATTTGGAGTTGTTTTTTATCATGGCCTTACTAT GTTTTAATTCACTGTGACAGGGCTATTGTTATCACTGAGATTGATGATCA ATATCAAGAAGTAATCAGCGAAAGGTTTCACCTATTTAAGATGATTAGCA CACATATGTACATTTGAGAAATATTTCCTAAGAATGCAGGCTCCTTCCTC AGCACTCTGTCCCCAGGATCCTGATGAGTGGCTGACACAGGACAAGTGCT TAATTAATATATATTGACTAAATGAATGAGCAACCCTTCAAAATGGCTAT TTTTCTTTTTCAAATGTTTTGCTACTTCATTAAAGTTGTAAAGTTTCCAT TGTCCAGGAACCGTTACTATCCGGAAGATTCAGGATAGACAAGTCTCTTT TGTACTTTGCAATACACTTTCATTGATATCTCATTTAATCCAACTCTTCA AAGTCCTAATGTCTACTGTCATCTCCTTAGCATATTTTCAGCAACACCAA TCATAGCACCCTGTAATTGCAGAATACCTCTGGTGAAACTCCTGAATGAA ACTTAGAGCTTTCATGTTTTTTCTAGAAATCTTTTGTCCAAGTCCTCCAG TTATTCCTAATGGGAGACACACAGGAAAACCTCTGGAAGTCTTTCCCTTT GGGAAAACAGTAAATTACACATGCGACCCCCACCCAGACAGAGGGACGAG CTTCGACCTCATTGGAGAGAGCACCATCCGCTGCACAAGTGACCCTCAAG GGAATGGGGTTTGGAGCAGCCCTGCCCCTCGCTGTGGAATTCTGGGTTAG TGCTCATTTCCCCACATCCCAAATGGGTTCAGAATATCTAACCCAGGCCC TCCATATTTCCGTAATTACAATGTGGTATTTATTTGTGCATTTGCCACAA TGGAATGCCAAACCAATGATAGATGGTTCTAAGGTAGGTCAACACATAAG ATCCTGATGACCTTTGCAGATGGAGGGACTGATGAAAAAAGAGGGAGGCG GTGAGTGGTGGGAAAGTCCTTCATTAGAATCATATGAATTAAAAACAGAT GCCTGTGAATCTCCTTATTGAAATGTTTGGTTTAGAAATCTGACCTAGAA AATCGGTGGCTCCTTCTGCCAGGAAACGTCTTGAGTTCCCGCCCATGCTT GACAGCCTCTCATTGGAGTTTTGATGACTTGAAGTACAAGGAAACCAGAC AGGAAAGGTGGAACCTGGGCAGAAAAACTCTTTCTGGCTTCCTAAAAATG TGAAAAATTAAATGGGAGCTATCTTTACATTAAATTATATGAGCATTAGC TGAGCGTGGTGGCAATTGCCTGTGGTCCCAGCTACTCGAGAGGCTGAGAT GGGAGTATCCCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTG TGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCAAAAAC AATAAAAATAGGCATTAGGAGGCCAAGGCTGGTGGATCACTAGAGGTCAG GAGTTCCAGACCAGCCCGCAAACACAGTGAAACTCCAACTCTACTAAAAA TAGAAAAAAAATTTAAAAACAAAAATAAATTATATGAGTAGAAAGACCAG ATAGCAGGCTAGTCTTCCAAATAATATACTTCCTTATAAGCCTATGCTAA TGGAACTTTCCTTTCTATTTTACAGGGAAGTTTTTTTTTTTTCATAACTA AAATTTTCTTTTCTTCTGGCATCAAATCTACCAAGGAAGAGAAAAGAGGA AACACACTGGGTATCTTTTTATTAACTCAAATATTCTTGATTTCTTGGTC TCTAGGTCACTGTCAAGCCCCAGATCATTTTCTGTTTGCCAAGTTGAAAA CCCAAACCAATGCATCTGACTTTCCCATTGGGACATCTTTAAAGTACGAA TGCCGTCCTGAGTACTACGGGAGGCCATTCTCTATCACATGTCTAGATAA CCTGGTCTGGTCAAGTCCCAAAGATGTCTGTAAACGTGCGTAAACTTGCG TTGGATCTTTCCCATGTCTGCAAAAGCTTCTTATGGAATTATTTCAAATG TGGGATATGAGAAACCTTTTCTGAAAAGTGTTCGGATAGATGGATGTAAG AGTTTTTCTTGTAGGCATCCTTGATTGTTGCTTGAAATGTTAACTTCATG AGAATGTTTCAAGAAATAGTTGTAGAGAAAATCTTCATTCCCTATGGGAA AGAAAATAATAAATGACTAGATCAGGAAAAAAATGGTGTAGGAAGACAAA TTCTGTTTGAATAACTAGGTGGGAAGAAATCCTTTGCAAACTTTGAAATA TATTGATAGTAAATAATGCCATAAATGACCTTTACATTTTGATAAGGGAT GCAAGGTCTCTACACAGATCTAAATCTAGATCTAGATAGATCTGGAGGGA AGGTCTTTTTGAAAGTGGGGCTTAGTAGGTGGCTGATCCTCAGCGCTCTG ATGAGTTTTCTCAAGGTGCCAAAATCTGTGGAACCATCAGAACCGCGTGT TTTCTTCAGGAAGCTACATGCAGGTTGAGACCTTACGTACTGAAGAGAGT TCAGATTACTCTACCTGGCTCCAAAACATTTTCTTTCCCACAGGTAAATC ATGTAAAACTCCTCCAGATCCAGTGAATGGCATGGTGCATGTGATCACAG ACATCCAGGTTGGATCCAGAATCAACTATTCTTGTACTACAGGGTGAGTT GGCAGCAACATCTCTTGGTTTAAGAGTTCCAGCACAGCGATAGTACTTTC TAGCCACATCTCAGCAAGGAAACTAGGCTATTGCCACCTGCTCTTAAGAG GCTTGAACACAGGTGTTAACTCCTGATTGAAATGAACAAAGATAGGAGAA GATTAGGGGGAAAATCTGTATCCTTGCTGGAAACCAGGGCAGTGCACATA TAAAGAGTATGCTGTTCACTGGATGGGAAAGAAAAAAAATTAGAAGTGTA GTAGTCAAAGCACACAAACAACCCTAACCCAGAGTAGACATTGCTGGAAG AAAGGGAAGACCATGTAGCAGCTGTGTGAGAGAATGAATCTTAATGATAA CAGCATGATCCCTTGCTAGGGCTGCCATCAAAAAGTACAGGCCTTCCTCG TTTTATTGTACTTCGCAGATGTTATGCTTTTTACAAATTGAACGCTTGTG GGAACGCTGTGTAAGCATGTTCGTCGGCATCATTTATCCAACAGCGTGTG TTGACTTCGTGTCTCTGTGTAGCATTTTGATTATTCTCACAGTATCCCAG ATGTTTTCATTATTATCATGTCTGTGATAGTGATCTGTCATCAGTGATCT TTGATGTTACTATTGTCATTGTTTGGGGTCCCTACGAACTGCACCCATAT AAGACAGAAAACTTAATCAATAAATGTGCGTGCTTTGACTGCTCCATGGA CTAGACATTCCCCTTCTGTCTCCCTCTCTTCAGGACTCCCTAATCCCTGA GACACAATAATACTAAAATGACTCCAATTAATAACCCTACAATAGCCTTT AAGTGTTGACATGAAGGGAAGAGTCATGCATCTCTTACTTTAAATCAAAA GCTAGAGATGATTAAGCTTACTGAGGAAGATACGTTGAAAACCAAGATAG GCCAAAAGCCATTCCTCATGTGCCAAACAGCTAGAAAGTTGTAAAGGCAA AGTAAAAATACTTGAAGGAAATTTAAAATGCTCTTCCAGTGAACACATGT ATGATAAGAAGGTAAAACAGCCTTATTGCTGATATGGAAGAAGTTTTAGT GGTCTAGATATAAGATCAAACTAGAAACATTTCCTGAAGCCAAAGCGTAA TCCTGAGCAAGGCCGTAACTCTCTTCAATTCTGTGAAGGCTGACAGAAGC TGGAAGCTAGCAGAATTTGGTTCCTGAGGTTTAAGGAAAGAAGCCCTCTC CATAACATAAAGGTCCAAGGTGAAGCAGCCAGTGCTCATATAGAAGTTGC AGCAAGTTATCTAGAAAATCTAGCTAAGATCACTGACGAAGGTGTTACAC TAAATAACAGATTTTCCATGTAGACAAAACAGCCATCTATTGGACTTTCA TAGCTAGAGAGGAGAAGCCAATACCTGGGTTCAAAGCTTCAAAGAACAGG CTGACTTTTTAGGAGCTAATGCCGCTGGTGACTTTGAGTTGAAGCCAATG TTCACCGACCATTCTAAAAATCCTAGGGCCCTTAAGCATTAAGTTAAATA TACCTTGCCTGTGTCTATAAATGGAAGAACAAAGCCTGATGACAGAGGTA TGTTTGCGGCATAGTTTACTGAATATTTTAAGCCCACTGTTGAGATCTAG TGCTCAGAAAAACAGATTCCTTTCAAAATATTACTGCTCATTGACATTGC ACCTAAGCAGCCAAGAGCTCTAATGGAGATGGACATGGAGATGAATGGAG TTTTCCTGCCTGCTAACAACGGCAGCCATTCTGCAGCCCATGGCTGAAGG AGTAATTTTGACTTTCAAGTTTCACTATTTAAGAAATACATTTTGTAAGG TGAGTCCCCACAGACAGTAATTCCTCTGATGGATCTGAACAAAATAAGTT GAAAACTGCTGGAAAGAATTCATCATTCTACATACCATTAAGAACATTCG TGATTCATGGGAAGAGCTTAAAATATCAACATTAATAGGAGTTTGGTAGA AGTTAATTCCAACCCTCATGGCTGACTTTGAGAGGTTCAAGACTTCAGCG GAGGAAATAACTGAAGATGTGGTGAAAATCGCAAGAGAACTACAATTAGA AGTGGAGCCTGAAGACGTGACTGAATTGCGACAAATTCATGATCAAACTT GAACAGATGAGGAGTTGCTTCTCATGAATCAGCAGAGAAAGTGGTTTTTT TGAGGTGGAGTGTCTTCCTGGTGATGATGACATGAGCATTGTGAAAATGA CCACAAAGGATACAGAATATTACAAAAACTTAGGTGATAAAGCAGCAGCA GTATCGGGAGGATTAACTCCAATTTTGAAAGCAGTTCAGAGGGTAAAATG TTATCAAACAGCATTGCATGCTAGAAAAATCTTTTGTGAAAGGAAGAGTC CATCAATACAGCAATTTTATTGCTGTCTCAGCTTAAGAAATTGCCACAGC CACCCCAGCCTTCAGCAACCACCACCCTGATCAGTCAGCAGCCATCAACC TTGAGGCAAGACCCTCCACCAACAAAAAGATTACAAATTATTGAAGGTCA GATAATCTTTAGTATTTTCTTATCAATAAACCTTTTTTTAAAGTATGACT TTGTTTAGACATAATGCTATTTCACACTTAATAGACTACCGTATAGTATA AACACAACTTTTAGACTCACTGAGAAATCAAAAAATTCATCTGACTCATT TGTTGTGATATGTGTTTTATTGTGGTGGTCTGGAACTGAACCTGCAATAT ATTTGAGGAATGTCTGTAACACGAAGTGGGCGGCTTAATACAACAGAAGT TTTTGGAGTTCCATTCTAGAGACTGGAAATCCAAAATCAAGGTTTTGGGA GGGCCACGCTCCCTCTGAATCCTGTAGGGAAGGATCCTTCATTGCATCTT CCAGCTTCTGGAGCCACAGGCCTTCCTTGGCATGTGGCAGCAGAACTCCA ATTTCTGTCTCTGTCCTCATATGGCCATCTTCCCTCTGGGTCTGTGTCCT CATATGCTGTTCTCTCTGTGCATGTCTGTTTCCAAAGTTTTCCCTTTTAA TAAGGACACCAGTCACACTGGATTAGGGCCTACCTTCATGACCTCACCTT AACTTGATTGCGTCTGCAAAGATCGTATTTCCAAATAAGGTCACATCCAC AGGGACTGGAGGTTAAGACTTCAGCATACTCAGGGGAGACACAATTCAAC CTATAACAGAGCCCCTTTGAAAATGTCAGGCATCAGGTGCTCACAGCACA CGGTCCAGCTGTTGGTGCTCACCCTTGCTCAGCACACGGTGGAGGCTCTG CCTCAATCTCATTCTTCATGGGAACAGCTAAGCCAGGTAGCGAATACGAG TTACGTTTGTGTCACCACAGCAGACACTGAAAGGAAGTTTGTGGTGTCCA GCACATTTGCCAGCATAGGCCTCACAGACCACAACACCTAGAATCTGACA AAAATTAGAATAAATCCGATGTCTCCTTTTCTCTCTTTTTTTAAGCATTT TTAAATACAATTGGTAAATTTCCTGACTGTACCCTACTCATCTTGCATTG CTGAATAAGTGAGGAACCTCTCTATGGCATGAAGCAGAAAACCATTGAGC TTATGAGAAGAAACAGGAAATACATGTAAAAGAGACCAGTCTGAAAAATC AGGAGAAATTTTACAAAAGAGATTTACTGCCAAGAAACCAGGGAAACTTT CAGAACACTCTCCTTTTCATATTTGTAACAAGATTCAATTGTACAAATAC TTCTGTGAAACTAGCCATGAAGTGTGTACATGAATGAATATATGTATTCA GTGTGTTTATATATTTCATTTCATACATGTGATCTATATC	T T	exon_loss_variant exon_loss_variant	HIGH	NA18972.hp2 NA18972.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0164 a0004c0004t0001g0164	1	360	0.0028	-18539	c.175 others(19): Show c.1752-1857_3102-1876del		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	12/47					INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 235 hits)